Cardiff University genomics researcher awarded Medical Research Foundation fellowship

Cardiff University genomics researcher Dr Samuel Chawner has been awarded a Medical Research Foundation eating disorders and self-harm fellowship.

Samuel explained: “My work will focus on the intersection of eating disorders and rare genetic conditions in children and adolescents, both clinically important areas which have been historically understudied.

"The project will focus on two rare genetic conditions that are linked with extreme differences in body weight and abnormal eating behaviour. The genetic conditions are caused by DNA being deleted or duplicated on one of the chromosomes, known as ‘16p11.2 deletion syndrome’ and ‘16p11.2 duplication syndrome’."

Individuals with 16p11.2 deletion syndrome are at high risk of obesity and eating binges, whereas patients with 16p11.2 duplication syndrome tend to be very underweight and at higher risk of anorexia.

Samuel said: "This project hopes to increase our knowledge of the development and early signs of eating disorders, and provide vital information to the families affected by these rare genetic conditions."

Samuel will be working with Professor Marianne van den Bree, Professor Peter Holmans and Professor Sir Michael Owen in the MRC Centre for Neuropsychiatric Genetics and Genomics, Professor John Fox from Psychology, Professor Cynthia Bulik from the University of North Carolina, and Professor Ole Andreassen and Doctor Ida Sønderby from the University of Oslo.

“The opportunity to study individuals with these Copy Number Variants in both clinical samples (diagnosed by genetics clinics) as well as in large population-based cohorts, offers many opportunities for much-needed new insights into the aetiology of eating disorder development.

“I am very much looking forward to the findings from this exciting project. It will also give Sam the opportunity to visit beautiful Norway!”

This funding scheme was made possible thanks to a gift in the will of Catherine Mary Evans.